ARID2
gene geneOn this page
Also known as KIAA1557DKFZp686G052FLJ30619BAF200SMARCF3ZIPZAPp200
Summary
ARID2 (AT-rich interaction domain 2, HGNC:18037) is a protein-coding gene on chromosome 12q12, encoding AT-rich interactive domain-containing protein 2 (Q68CP9). Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). It is a selective cancer dependency (DepMap: 33.9% of cell lines) and haploinsufficient (ClinGen: sufficient evidence).
This gene encodes a member of the AT-rich interactive domain (ARID)-containing family of DNA-binding proteins. Members of the ARID family have roles in embryonic patterning, cell lineage gene regulation, cell cycle control, transcriptional regulation and chromatin structure modification. This protein functions as a subunit of the polybromo- and BRG1-associated factor or PBAF (SWI/SNF-B) chromatin remodeling complex which facilitates ligand-dependent transcriptional activation by nuclear receptors. Mutations in this gene are associated with hepatocellular carcinomas. A pseudogene of this gene is found on chromosome1.
Source: NCBI Gene 196528 — RefSeq curated summary.
At a glance
- Gene–disease (curated): Coffin-Siris syndrome (Definitive, ClinGen) — +1 more curated relationship
- GWAS associations: 16
- Clinical variants (ClinVar): 585 total — 76 pathogenic, 35 likely-pathogenic
- Phenotypes (HPO): 103
- Druggable target: yes
- Cancer driver (intOGen): loss-of-function (tumor-suppressor-like) across 21 cancer types
- Cancer dependency (DepMap): dependent in 33.9% of screened cell lines
- Dosage sensitivity (ClinGen): haploinsufficiency sufficient evidence, triplosensitivity no evidence
- MANE Select transcript:
NM_152641
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:18037 |
| Approved symbol | ARID2 |
| Name | AT-rich interaction domain 2 |
| Location | 12q12 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | KIAA1557, DKFZp686G052, FLJ30619, BAF200, SMARCF3, ZIPZAP, p200 |
| Ensembl gene | ENSG00000189079 |
| Ensembl biotype | protein_coding |
| OMIM | 609539 |
| Entrez | 196528 |
Gene structure
Transcript identifiers
Ensembl transcripts: 14 — 9 protein_coding, 3 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay, 1 retained_intron
ENST00000334344, ENST00000422737, ENST00000426776, ENST00000427628, ENST00000444670, ENST00000457135, ENST00000477947, ENST00000479608, ENST00000480128, ENST00000700074, ENST00000851072, ENST00000859902, ENST00000859903, ENST00000956309
RefSeq mRNA: 2 — MANE Select: NM_152641
NM_001347839, NM_152641
CCDS: CCDS31783
Canonical transcript exons
ENST00000334344 — 21 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001238746 | 45836741 | 45836991 |
| ENSE00001420131 | 45821420 | 45821487 |
| ENSE00001426558 | 45836589 | 45836655 |
| ENSE00003460259 | 45893420 | 45893543 |
| ENSE00003468581 | 45893630 | 45893721 |
| ENSE00003486216 | 45811418 | 45811551 |
| ENSE00003492003 | 45892011 | 45892096 |
| ENSE00003518023 | 45839329 | 45839496 |
| ENSE00003518306 | 45848836 | 45848970 |
| ENSE00003521642 | 45846856 | 45846937 |
| ENSE00003523900 | 45817670 | 45817888 |
| ENSE00003532308 | 45849580 | 45849776 |
| ENSE00003540607 | 45837498 | 45837707 |
| ENSE00003561016 | 45837321 | 45837417 |
| ENSE00003564878 | 45860801 | 45860949 |
| ENSE00003590472 | 45850036 | 45852896 |
| ENSE00003672262 | 45891780 | 45891918 |
| ENSE00003843639 | 45904934 | 45908037 |
| ENSE00003978763 | 45730044 | 45730137 |
| ENSE00003978764 | 45731217 | 45731314 |
| ENSE00004283644 | 45729706 | 45729928 |
Expression profiles
Bgee: expression breadth ubiquitous, 253 present calls, max score 95.74.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 11.5302 / max 146.6726, expressed in 1751 samples.
FANTOM5 promoters (7 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 125152 | 6.0995 | 1583 |
| 125150 | 2.8760 | 1350 |
| 125151 | 1.2583 | 600 |
| 125155 | 0.5199 | 146 |
| 125153 | 0.5139 | 272 |
| 125154 | 0.2155 | 97 |
| 125160 | 0.0471 | 4 |
Top tissues by expression
255 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| sperm | CL:0000019 | 95.74 | gold quality |
| pancreatic ductal cell | CL:0002079 | 94.91 | gold quality |
| secondary oocyte | CL:0000655 | 94.44 | gold quality |
| oocyte | CL:0000023 | 90.93 | gold quality |
| bone marrow cell | CL:0002092 | 90.50 | gold quality |
| kidney epithelium | UBERON:0004819 | 89.90 | silver quality |
| thymus | UBERON:0002370 | 89.68 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 89.50 | gold quality |
| oviduct epithelium | UBERON:0004804 | 88.29 | gold quality |
| ventricular zone | UBERON:0003053 | 88.23 | gold quality |
| nasal cavity epithelium | UBERON:0005384 | 87.69 | silver quality |
| colonic epithelium | UBERON:0000397 | 87.54 | gold quality |
| ganglionic eminence | UBERON:0004023 | 87.43 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 87.41 | gold quality |
| calcaneal tendon | UBERON:0003701 | 87.06 | gold quality |
| bone marrow | UBERON:0002371 | 86.98 | gold quality |
| ileal mucosa | UBERON:0000331 | 86.87 | gold quality |
| nipple | UBERON:0002030 | 86.78 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 86.59 | gold quality |
| tibialis anterior | UBERON:0001385 | 86.54 | silver quality |
| adrenal tissue | UBERON:0018303 | 86.33 | gold quality |
| sural nerve | UBERON:0015488 | 85.93 | gold quality |
| tonsil | UBERON:0002372 | 85.81 | gold quality |
| testis | UBERON:0000473 | 85.66 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 85.24 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 85.10 | gold quality |
| cardia of stomach | UBERON:0001162 | 85.05 | gold quality |
| corpus callosum | UBERON:0002336 | 84.91 | gold quality |
| left testis | UBERON:0004533 | 84.85 | gold quality |
| cortical plate | UBERON:0005343 | 84.72 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
309 targeting ARID2, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-656-3P | 100.00 | 72.15 | 2788 |
| HSA-MIR-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-126-5P | 100.00 | 72.71 | 3180 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-1193 | 100.00 | 65.93 | 529 |
| HSA-MIR-6873-3P | 100.00 | 71.42 | 2626 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-5692B | 100.00 | 71.32 | 2622 |
| HSA-MIR-5692C | 100.00 | 71.32 | 2622 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-432-3P | 100.00 | 67.86 | 705 |
| HSA-MIR-188-3P | 100.00 | 68.76 | 1240 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-6077 | 99.99 | 68.04 | 2299 |
| HSA-MIR-513B-5P | 99.99 | 69.96 | 2150 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-3692-3P | 99.98 | 70.27 | 2139 |
| HSA-MIR-4482-3P | 99.98 | 72.50 | 3147 |
| HSA-MIR-499A-5P | 99.98 | 70.79 | 1323 |
| HSA-MIR-4803 | 99.98 | 71.99 | 3117 |
| HSA-MIR-27A-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-27B-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-9985 | 99.98 | 72.11 | 2939 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-6888-3P | 99.97 | 65.95 | 1170 |
| HSA-MIR-9-3P | 99.96 | 70.88 | 2068 |
Functional genomics
ClinGen dosage: haploinsufficiency 3 (sufficient evidence), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map
DepMap (CRISPR cell-line fitness): dependent in 33.9% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 34)
- zipzap may serve as a transcription co-activator for the regulation of cardiac gene expression (PMID:16782067)
- 18.2% of individuals with HCV-associated HCC in the United States and Europe harbored ARID2 inactivation mutations, suggesting that ARID2 is a tumor suppressor gene that is relatively commonly mutated in this tumor subtype. (PMID:21822264)
- we summarize the current knowledge about the relevance of ARID2 in Hepatocellular carcinoma and the implication in future patient care (PMID:22095441)
- Recurrent inactivating mutations of ARID2 is associated with non-small cell lung carcinoma. (PMID:23047306)
- Mutations in ARID2 gene is associated with microsatellite unstable colorectal cancer. (PMID:24382590)
- The subsequent validation study on 68 LCBs identified recurrent mutations in TERT promoter, chromatin regulators (BAP1, PBRM1 and ARID2), a synapse organization gene (PCLO), IDH genes and KRAS. (PMID:25636086)
- loss of ARID2 protein expression may be associated with recurrence of hepatocellular carcinoma (PMID:25701229)
- This is the first report of mutations in ARID2 associated with developmental delay and intellectual disabilities . (PMID:26238514)
- Arid2 role in genome-wide transcriptional regulation by SWI/SNF complexes. (PMID:26716708)
- These findings highlight the potential role of ARID2 as a tumor growth suppressor in hepatocellular carcinoma (PMID:27351279)
- study identifies mutations in the ARID2 gene as a novel and rare cause for a CSS-like phenotype and enlarges the list of CSS-like genes (PMID:28124119)
- ARID2 knockout could contribute to disruption of DNA repair process. (PMID:28238438)
- Baf200 and Rad51 are present in the same complex and that this interaction is mediated by C-terminal sequences in both proteins. (PMID:28381560)
- We present a 4-year-old girl with delayed neuromotor development, short stature of prenatal onset, and specific behavioral and craniofacial features harboring an intragenic deletion in the ARID2 gene. The phenotype confirmed the major features of the recently described ARID2-related intellectual disability syndrome. (PMID:28884947)
- Mutations in or involving the ARID2 gene were identified in the patients with the features resembling Coffin-Siris syndrome. (PMID:29698805)
- The binding between HBc and BAF200 was of vital importance to HBc mediated downregulation of interferon-induced transmembrane protein 1 (IFITM1) expression. (PMID:31075894)
- Long non-coding RNA Arid2-IR affects advanced glycation end products-induced human retinal endothelial cell injury by binding to Smad3. (PMID:31912402)
- Association between ARID2 and RAS-MAPK pathway in intellectual disability and short stature. (PMID:33051312)
- Exome sequencing identifies ARID2 as a novel tumor suppressor in early-onset sporadic rectal cancer. (PMID:33262464)
- ARID2 Deficiency Correlates with the Response to Immune Checkpoint Blockade in Melanoma. (PMID:33333124)
- Expression and prognostic values of ARID family members in breast cancer. (PMID:33592583)
- ARID2 deficiency promotes tumor progression and is associated with higher sensitivity to chemotherapy in lung cancer. (PMID:33742126)
- CREB1 acts via the miR922/ARID2 axis to enhance malignant behavior of liver cancer cells. (PMID:33786634)
- ARID1A, ARID1B, and ARID2 Mutations Serve as Potential Biomarkers for Immune Checkpoint Blockade in Patients With Non-Small Cell Lung Cancer. (PMID:34512623)
- BRD4 inhibition induces synthetic lethality in ARID2-deficient hepatocellular carcinoma by increasing DNA damage. (PMID:35017665)
- Altered BAF occupancy and transcription factor dynamics in PBAF-deficient melanoma. (PMID:35385731)
- ARID2 suppression promotes tumor progression and upregulates cytokeratin 8, 18 and beta-4 integrin expression in TP53-mutated tobacco-related oral cancer and has prognostic implications. (PMID:35869277)
- miR-29a-5p regulates the malignant biological process of liver cancer cells through ARID2 regulation of EMT. (PMID:36530029)
- USP2 Inhibits Lung Cancer Pathogenesis by Reducing ARID2 Protein Degradation via Ubiquitination. (PMID:36567903)
- ARID2, a rare cause of Coffin-Siris syndrome: A novel microdeletion at 12q12q13.11 causing severe short stature and literature review. (PMID:36756859)
- Coffin-Siris Syndrome: Case Series of Three Patients and a Novel ARID2 Variant. (PMID:38182156)
- ARID2, a milder cause of Coffin-Siris Syndrome? Broadening the phenotype with 17 additional individuals. (PMID:38243407)
- ARID2 mutations may relay a distinct subset of cutaneous melanoma patients with different outcomes. (PMID:38341515)
- Revealing the clinical impact of MTOR and ARID2 gene mutations on MALT lymphoma of the alimentary canal using targeted sequencing. (PMID:39054516)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | arid2 | ENSDARG00000007413 |
| mus_musculus | Arid2 | ENSMUSG00000033237 |
| rattus_norvegicus | Arid2 | ENSRNOG00000004831 |
| drosophila_melanogaster | Bap170 | FBGN0042085 |
| caenorhabditis_elegans | WBGENE00007433 |
Protein
Protein identifiers
AT-rich interactive domain-containing protein 2 — Q68CP9 (reviewed: Q68CP9)
Alternative names: BRG1-associated factor 200, Zinc finger protein with activation potential, Zipzap/p200
All UniProt accessions (6): A0A087WY37, A0A8V8TP93, F8VWP4, F8W108, F8WCU9, Q68CP9
UniProt curated annotations — full annotation on UniProt →
Function. Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Required for the stability of the SWI/SNF chromatin remodeling complex SWI/SNF-B (PBAF). May be involved in targeting the complex to different genes. May be involved in regulating transcriptional activation of cardiac genes.
Subunit / interactions. Component of the SWI/SNF-B (PBAF) chromatin remodeling complex, at least composed of SMARCA4/BRG1, SMARCB1/BAF47/SNF5, ACTL6A/BAF53A or ACTL6B/BAF53B, SMARCE1/BAF57, SMARCD1/BAF60A, SMARCD2/BAF60B, perhaps SMARCD3/BAF60C, SMARCC1/BAF155, SMARCC2/BAF170, PBRM1/BAF180, ARID2/BAF200 and actin. Interacts with SRF. Forms complexes with SRF and SRF cofactors MYOCD, NKX2-5 and SRFBP1.
Subcellular location. Nucleus.
Tissue specificity. Highly expressed in heart.
Disease relevance. Coffin-Siris syndrome 6 (CSS6) [MIM:617808] A form of Coffin-Siris syndrome, a congenital multiple malformation syndrome with broad phenotypic and genetic variability. Cardinal features are intellectual disability, coarse facial features, hypertrichosis, and hypoplastic or absent fifth digit nails or phalanges. Additional features include malformations of the cardiac, gastrointestinal, genitourinary, and/or central nervous systems. Sucking/feeding difficulties, poor growth, ophthalmologic abnormalities, hearing impairment, and spinal anomalies are common findings. Both autosomal dominant and autosomal recessive inheritance patterns have been reported. CSS6 inheritance is autosomal dominant. The disease is caused by variants affecting the gene represented in this entry.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q68CP9-1 | 1 | yes |
| Q68CP9-3 | 2 |
RefSeq proteins (2): NP_001334768, NP_689854* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001606 | ARID_dom | Domain |
| IPR003150 | DNA-bd_RFX | Domain |
| IPR013087 | Znf_C2H2_type | Domain |
| IPR016024 | ARM-type_fold | Homologous_superfamily |
| IPR036388 | WH-like_DNA-bd_sf | Homologous_superfamily |
| IPR036390 | WH_DNA-bd_sf | Homologous_superfamily |
| IPR036431 | ARID_dom_sf | Homologous_superfamily |
| IPR052406 | Chromatin_Remodeling_Comp | Family |
Pfam: PF01388, PF02257
UniProt features (106 total): helix 30, sequence conflict 18, modified residue 10, compositionally biased region 9, region of interest 8, turn 8, strand 7, cross-link 7, sequence variant 2, initiator methionine 1, chain 1, short sequence motif 1, domain 1, DNA-binding region 1, zinc finger region 1, splice variant 1
Structure
Experimental structures (PDB)
2 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 7VDV | ELECTRON MICROSCOPY | 3.4 |
| 7Y8R | ELECTRON MICROSCOPY | 4.4 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q68CP9-F1 | 52.30 | 0.16 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (17): 2, 4, 631, 635, 653, 689, 692, 1300, 1391, 1496, 7, 15, 119, 555, 1701, 1716, 1731
Function
Pathways and Gene Ontology
Reactome pathways
9 pathways
| ID | Pathway |
|---|---|
| R-HSA-3214858 | RMTs methylate histone arginines |
| R-HSA-8939243 | RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known |
| R-HSA-9933939 | Formation of the polybromo-BAF (pBAF) complex |
| R-HSA-212436 | Generic Transcription Pathway |
| R-HSA-3247509 | Chromatin modifying enzymes |
| R-HSA-4839726 | Chromatin organization |
| R-HSA-73857 | RNA Polymerase II Transcription |
| R-HSA-74160 | Gene expression (Transcription) |
| R-HSA-8878171 | Transcriptional regulation by RUNX1 |
MSigDB gene sets: 600 (showing top):
GOBP_REGULATION_OF_DOUBLE_STRAND_BREAK_REPAIR, GOBP_REGULATION_OF_CELL_ACTIVATION, GOBP_CHROMOSOME_ORGANIZATION, GOBP_REGULATION_OF_DNA_RECOMBINATION, WANG_CLIM2_TARGETS_UP, GOBP_MUSCLE_TISSUE_DEVELOPMENT, GOBP_POSITIVE_REGULATION_OF_HEMOPOIESIS, GOBP_CORONARY_VASCULATURE_DEVELOPMENT, GOBP_CELL_CYCLE_PHASE_TRANSITION, GOBP_GROWTH, chr12q12, TATTATA_MIR374, GOBP_ARTERY_DEVELOPMENT, GOBP_REGULATION_OF_DOUBLE_STRAND_BREAK_REPAIR_VIA_HOMOLOGOUS_RECOMBINATION, GOBP_MUSCLE_CELL_PROLIFERATION
GO Biological Process (22): heart morphogenesis (GO:0003007), nucleosome disassembly (GO:0006337), chromatin remodeling (GO:0006338), regulation of transcription by RNA polymerase II (GO:0006357), negative regulation of cell population proliferation (GO:0008285), regulation of mitotic metaphase/anaphase transition (GO:0030071), negative regulation of cell migration (GO:0030336), homeostatic process (GO:0042592), positive regulation of T cell differentiation (GO:0045582), positive regulation of cell differentiation (GO:0045597), positive regulation of myoblast differentiation (GO:0045663), embryonic organ development (GO:0048568), cardiac muscle cell proliferation (GO:0060038), coronary artery morphogenesis (GO:0060982), regulation of G0 to G1 transition (GO:0070316), positive regulation of double-strand break repair via homologous recombination (GO:1905168), regulation of G1/S transition of mitotic cell cycle (GO:2000045), positive regulation of double-strand break repair (GO:2000781), regulation of nucleotide-excision repair (GO:2000819), chromatin organization (GO:0006325), regulation of DNA-templated transcription (GO:0006355), circulatory system development (GO:0072359)
GO Molecular Function (4): DNA binding (GO:0003677), zinc ion binding (GO:0008270), protein binding (GO:0005515), metal ion binding (GO:0046872)
GO Cellular Component (8): kinetochore (GO:0000776), chromatin (GO:0000785), nucleus (GO:0005634), nucleoplasm (GO:0005654), plasma membrane (GO:0005886), nuclear matrix (GO:0016363), SWI/SNF complex (GO:0016514), RSC-type complex (GO:0016586)
Reactome top-level categories
Rollup of top-7 pathways:
| Category | Pathways |
|---|---|
| Chromatin modifying enzymes | 1 |
| Transcriptional regulation by RUNX1 | 1 |
| SWI/SNF chromatin remodelers | 1 |
| RNA Polymerase II Transcription | 1 |
| Chromatin organization | 1 |
| Gene expression (Transcription) | 1 |
| Generic Transcription Pathway | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| regulation of mitotic cell cycle phase transition | 2 |
| nuclear lumen | 2 |
| SWI/SNF superfamily-type complex | 2 |
| heart development | 1 |
| animal organ morphogenesis | 1 |
| protein-DNA complex disassembly | 1 |
| nucleosome organization | 1 |
| chromatin organization | 1 |
| regulation of DNA-templated transcription | 1 |
| transcription by RNA polymerase II | 1 |
| cell population proliferation | 1 |
| regulation of cell population proliferation | 1 |
| negative regulation of cellular process | 1 |
| metaphase/anaphase transition of mitotic cell cycle | 1 |
| regulation of metaphase/anaphase transition of cell cycle | 1 |
| cell migration | 1 |
| regulation of cell migration | 1 |
| negative regulation of cell motility | 1 |
| biological_process | 1 |
| T cell differentiation | 1 |
| regulation of T cell differentiation | 1 |
| positive regulation of lymphocyte differentiation | 1 |
| positive regulation of T cell activation | 1 |
| cell differentiation | 1 |
| regulation of cell differentiation | 1 |
| positive regulation of cellular process | 1 |
| positive regulation of developmental process | 1 |
| myoblast differentiation | 1 |
| positive regulation of cell differentiation | 1 |
| regulation of myoblast differentiation | 1 |
| embryo development | 1 |
| animal organ development | 1 |
| striated muscle cell proliferation | 1 |
| cardiac muscle tissue growth | 1 |
| artery morphogenesis | 1 |
| coronary vasculature morphogenesis | 1 |
| regulation of cell cycle process | 1 |
| G0 to G1 transition | 1 |
| double-strand break repair via homologous recombination | 1 |
Protein interactions and networks
STRING
1775 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ARID2 | PBRM1 | Q86U86 | 999 |
| ARID2 | BRD7 | Q9NPI1 | 997 |
| ARID2 | SMARCA4 | P51532 | 996 |
| ARID2 | SMARCB1 | Q12824 | 995 |
| ARID2 | PHF10 | Q8WUB8 | 995 |
| ARID2 | SMARCE1 | Q969G3 | 992 |
| ARID2 | ARID1A | O14497 | 989 |
| ARID2 | ARID1B | Q8NFD5 | 985 |
| ARID2 | SMARCC1 | Q92922 | 964 |
| ARID2 | SMARCC2 | Q8TAQ2 | 945 |
| ARID2 | BRD9 | Q9H8M2 | 933 |
| ARID2 | ACTL6A | O96019 | 932 |
| ARID2 | DPF2 | Q92785 | 929 |
| ARID2 | SMARCA2 | P51531 | 925 |
| ARID2 | ACTL6B | O94805 | 836 |
IntAct
165 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| SMARCB1 | ARID2 | psi-mi:“MI:0915”(physical association) | 0.890 |
| SMARCB1 | ARID1A | psi-mi:“MI:0914”(association) | 0.860 |
| SMARCE1 | ARID1A | psi-mi:“MI:0914”(association) | 0.840 |
| NUP50 | KPNA4 | psi-mi:“MI:0914”(association) | 0.830 |
| PBRM1 | SMARCA4 | psi-mi:“MI:0914”(association) | 0.800 |
| SMARCE1 | ARID2 | psi-mi:“MI:0915”(physical association) | 0.800 |
| SMARCC1 | ARID1A | psi-mi:“MI:0914”(association) | 0.790 |
| SMARCD1 | ARID1A | psi-mi:“MI:0914”(association) | 0.790 |
| SMARCC2 | ARID1A | psi-mi:“MI:0914”(association) | 0.790 |
| ARID2 | SMARCA4 | psi-mi:“MI:0915”(physical association) | 0.770 |
| ARID2 | SMARCA4 | psi-mi:“MI:0914”(association) | 0.770 |
| SS18 | ARID1A | psi-mi:“MI:0914”(association) | 0.760 |
| SMARCE1 | SMARCA2 | psi-mi:“MI:0914”(association) | 0.730 |
| SMARCA4 | ACTL6A | psi-mi:“MI:0914”(association) | 0.670 |
BioGRID (250): ARID2 (Affinity Capture-MS), ARID2 (Affinity Capture-MS), ARID2 (Affinity Capture-MS), ARID2 (Affinity Capture-MS), ARID2 (Affinity Capture-MS), ARID2 (Affinity Capture-MS), ARID2 (Co-fractionation), ARID2 (Co-fractionation), ARID2 (Affinity Capture-MS), ARID2 (Affinity Capture-MS), ARID2 (Affinity Capture-MS), ARID2 (Affinity Capture-MS), ARID2 (Affinity Capture-MS), ARID2 (Affinity Capture-MS), ARID2 (Affinity Capture-MS)
ESM2 similar proteins: A9LNK9, B2D6P4, E9Q7E2, G4N3L5, G5ED29, O15350, O45211, O61707, O95104, P14003, P15330, P20227, P23645, P29303, P34545, P47238, P49880, P53361, P98149, Q02926, Q0DA50, Q1LZF1, Q21955, Q22366, Q22703, Q29A33, Q3L1C9, Q4V3C1, Q61L47, Q68CP9, Q6C7K8, Q6E2N3, Q6YGZ4, Q7TSH6, Q7ZX03, Q8QGQ6, Q8SWR8, Q91YA8, Q91YB0, Q91YB2
Diamond homologs: A0A0K3AXH1, A2BEA6, A2CG63, A6NKF2, A6PWV5, E1BLP6, E2R9X2, E7F888, E9Q7E2, F8VPQ2, O13953, O74365, P29374, Q03989, Q14865, Q24573, Q3SWY1, Q3U108, Q4H3P5, Q4LE39, Q4V3E2, Q54RM0, Q5XGD9, Q5ZJ69, Q62431, Q68CP9, Q6GQD7, Q8BM75, Q8IN94, Q8IVW6, Q8MQH7, Q94C32, Q99856, Q9JKB5, Q9Z1N7, C0SUW7, Q0WNR6, Q940Y3, Q9LTT3, Q9SGS2
SIGNOR signaling
2 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| ARID2 | “form complex” | “SWI/SNF complex” | binding |
| ARID2 | “form complex” | “SWI/SNF ACTL6B varian” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 148 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| Formation of the canonical BAF (cBAF) complex | 13 | 80.9× | 1e-21 |
| Formation of the polybromo-BAF (pBAF) complex | 13 | 80.9× | 1e-21 |
| Formation of the embryonic stem cell BAF (esBAF) complex | 13 | 76.6× | 3e-21 |
| Formation of neuronal progenitor and neuronal BAF (npBAF and nBAF) | 16 | 71.7× | 5e-25 |
| Formation of the non-canonical BAF (ncBAF) complex | 10 | 65.9× | 2e-15 |
| Regulation of endogenous retroelements | 14 | 50.6× | 2e-19 |
| Regulation of MITF-M-dependent genes involved in pigmentation | 17 | 44.3× | 3e-22 |
| RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known | 11 | 32.4× | 8e-13 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| regulation of G0 to G1 transition | 16 | 81.1× | 1e-25 |
| regulation of nucleotide-excision repair | 16 | 72.4× | 1e-24 |
| regulation of mitotic metaphase/anaphase transition | 16 | 59.6× | 4e-23 |
| nucleosome disassembly | 8 | 48.3× | 2e-10 |
| positive regulation of double-strand break repair | 16 | 41.4× | 4e-20 |
| positive regulation of T cell differentiation | 12 | 41.1× | 5e-15 |
| regulation of G1/S transition of mitotic cell cycle | 16 | 36.9× | 3e-19 |
| NLS-bearing protein import into nucleus | 6 | 36.2× | 7e-07 |
Disease & clinical
Cancer significance
From intOGen — cancer-driver classification: loss-of-function (tumor-suppressor-like) across 21 cancer types — CHOL, CSCC, ESCA, ESCC, GB, GBC, HCC, HNSC, LGGNOS, LUAD, MBL, MEL…(+9 more).
Clinical variants and AI predictions
ClinVar
585 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 76 |
| Likely pathogenic | 35 |
| Uncertain significance | 285 |
| Likely benign | 111 |
| Benign | 21 |
Top pathogenic / likely-pathogenic (30)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1034327 | NM_152641.4(ARID2):c.5026C>T (p.Gln1676Ter) | Pathogenic |
| 1170954 | NM_152641.4(ARID2):c.118dup (p.Val40fs) | Pathogenic |
| 1170956 | NM_152641.4(ARID2):c.2401_2402del (p.Met801fs) | Pathogenic |
| 1170957 | NM_152641.4(ARID2):c.3301_3302insAGGT (p.Val1101fs) | Pathogenic |
| 1170958 | NM_152641.4(ARID2):c.3814C>T (p.Arg1272Ter) | Pathogenic |
| 1170959 | NM_152641.4(ARID2):c.4732C>T (p.Gln1578Ter) | Pathogenic |
| 1170960 | NM_152641.3:c.(705+1_706-1)_(1330+1_1331-1)del | Pathogenic |
| 1170961 | GRCh37/hg19 12q12(chr12:46168172-46304719)x1 | Pathogenic |
| 1170962 | GRCh37/hg19 12q12(chr12:46150008-46321670)x1 | Pathogenic |
| 1177333 | NM_152641.4(ARID2):c.156_157del (p.Arg53fs) | Pathogenic |
| 1177334 | NM_152641.4(ARID2):c.1262_1265dup (p.Tyr423fs) | Pathogenic |
| 1177336 | NM_152641.4(ARID2):c.1580+1G>A | Pathogenic |
| 1177337 | NM_152641.4(ARID2):c.2458C>T (p.Gln820Ter) | Pathogenic |
| 1196352 | NM_152641.4(ARID2):c.5029C>T (p.Arg1677Ter) | Pathogenic |
| 1198066 | NM_152641.4(ARID2):c.5132_5135dup (p.Ser1713fs) | Pathogenic |
| 1285520 | NM_152641.4(ARID2):c.4540_4541delinsGAA (p.Thr1514fs) | Pathogenic |
| 1321937 | NM_152641.4(ARID2):c.2734C>T (p.Gln912Ter) | Pathogenic |
| 1343246 | NM_152641.4(ARID2):c.1331-1G>C | Pathogenic |
| 1526286 | NC_000012.12:g.45690000_45750000del | Pathogenic |
| 1675488 | NM_152641.4(ARID2):c.3065dup (p.Pro1023fs) | Pathogenic |
| 1679288 | NM_152641.4(ARID2):c.4210dup (p.Gln1404fs) | Pathogenic |
| 1684625 | NM_152641.4(ARID2):c.2377C>T (p.Gln793Ter) | Pathogenic |
| 1699019 | NM_152641.4(ARID2):c.4255_4256del (p.Pro1419fs) | Pathogenic |
| 1710278 | NM_152641.4(ARID2):c.675G>A (p.Trp225Ter) | Pathogenic |
| 1710463 | NM_152641.4(ARID2):c.2767C>T (p.Gln923Ter) | Pathogenic |
| 1711363 | GRCh37/hg19 12q12(chr12:46230372-46233279)x1 | Pathogenic |
| 1802698 | NM_152641.4(ARID2):c.1837C>T (p.Gln613Ter) | Pathogenic |
| 1805865 | NM_152641.4(ARID2):c.1334_1338del (p.Met445fs) | Pathogenic |
| 1879230 | NM_152641.4(ARID2):c.2164dup (p.Ser722fs) | Pathogenic |
| 1879231 | NM_152641.4(ARID2):c.3467del (p.Ile1156fs) | Pathogenic |
SpliceAI
3962 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 12:45729925:GAGG:G | donor_gain | 1.0000 |
| 12:45729927:GG:G | donor_gain | 1.0000 |
| 12:45729928:GG:G | donor_gain | 1.0000 |
| 12:45729929:G:GA | donor_loss | 1.0000 |
| 12:45729929:G:GG | donor_gain | 1.0000 |
| 12:45730134:GAAG:G | donor_gain | 1.0000 |
| 12:45730136:AGG:A | donor_loss | 1.0000 |
| 12:45730138:G:GA | donor_loss | 1.0000 |
| 12:45811414:TCAGT:T | acceptor_loss | 1.0000 |
| 12:45811415:CAGTT:C | acceptor_loss | 1.0000 |
| 12:45811416:A:AG | acceptor_gain | 1.0000 |
| 12:45811416:AG:A | acceptor_loss | 1.0000 |
| 12:45811417:G:GG | acceptor_gain | 1.0000 |
| 12:45811417:GTT:G | acceptor_gain | 1.0000 |
| 12:45811550:GG:G | donor_gain | 1.0000 |
| 12:45811551:GG:G | donor_gain | 1.0000 |
| 12:45817668:A:AG | acceptor_gain | 1.0000 |
| 12:45817669:G:GG | acceptor_gain | 1.0000 |
| 12:45817669:GATT:G | acceptor_gain | 1.0000 |
| 12:45817884:CGACA:C | donor_gain | 1.0000 |
| 12:45817885:GACA:G | donor_gain | 1.0000 |
| 12:45817885:GACAG:G | donor_gain | 1.0000 |
| 12:45817886:ACA:A | donor_gain | 1.0000 |
| 12:45817887:CA:C | donor_gain | 1.0000 |
| 12:45817887:CAG:C | donor_loss | 1.0000 |
| 12:45817888:AG:A | donor_loss | 1.0000 |
| 12:45817889:G:A | donor_loss | 1.0000 |
| 12:45817889:G:GG | donor_gain | 1.0000 |
| 12:45817890:T:A | donor_loss | 1.0000 |
| 12:45817891:AA:A | donor_loss | 1.0000 |
AlphaMissense
11927 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 12:45729891:T:C | F19L | 1.000 |
| 12:45729892:T:C | F19S | 1.000 |
| 12:45729893:C:A | F19L | 1.000 |
| 12:45729893:C:G | F19L | 1.000 |
| 12:45729904:T:C | L23P | 1.000 |
| 12:45729912:T:C | F26L | 1.000 |
| 12:45729913:T:C | F26S | 1.000 |
| 12:45729914:C:A | F26L | 1.000 |
| 12:45729914:C:G | F26L | 1.000 |
| 12:45729915:C:G | H27D | 1.000 |
| 12:45730085:T:C | L45P | 1.000 |
| 12:45730100:T:C | L50P | 1.000 |
| 12:45730102:T:G | Y51D | 1.000 |
| 12:45730112:T:A | V54D | 1.000 |
| 12:45730127:G:A | G59E | 1.000 |
| 12:45731218:T:A | V63D | 1.000 |
| 12:45731235:T:A | W69R | 1.000 |
| 12:45731235:T:C | W69R | 1.000 |
| 12:45731236:G:C | W69S | 1.000 |
| 12:45731237:G:C | W69C | 1.000 |
| 12:45731237:G:T | W69C | 1.000 |
| 12:45731307:T:G | Y93D | 1.000 |
| 12:45811423:T:A | L97Q | 1.000 |
| 12:45811423:T:C | L97P | 1.000 |
| 12:45811431:T:G | Y100D | 1.000 |
| 12:45811432:A:C | Y100S | 1.000 |
| 12:45811436:G:C | E101D | 1.000 |
| 12:45811436:G:T | E101D | 1.000 |
| 12:45817733:T:C | L161S | 1.000 |
| 12:45817745:T:C | L165P | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000000554 (12:45832706 A>G), RS1000013070 (12:45878537 A>G), RS1000019278 (12:45848386 T>C,G), RS1000040257 (12:45824685 G>C), RS1000113455 (12:45750272 C>G,T), RS1000140169 (12:45781876 G>A), RS1000151069 (12:45824421 A>T), RS1000164772 (12:45880033 T>C), RS1000165902 (12:45853833 G>A), RS1000172394 (12:45788341 G>A), RS1000188408 (12:45898096 C>A), RS1000204008 (12:45905277 A>G), RS1000217964 (12:45860614 A>C,G), RS1000218482 (12:45830822 C>A,T), RS1000242878 (12:45813826 G>A)
Disease associations
OMIM: gene MIM:609539 | disease phenotypes: MIM:617808, MIM:135900, MIM:609943, MIM:614562, MIM:619681
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| Coffin-Siris syndrome | Strong | Autosomal dominant |
| Coffin-Siris syndrome 6 | Strong | Autosomal dominant |
ClinGen Gene-Disease Validity (1)
Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.
| Disease | Classification | Inheritance |
|---|---|---|
| Coffin-Siris syndrome | Definitive | AD |
Mondo (10): Coffin-Siris syndrome 6 (MONDO:0033492), neurodevelopmental disorder (MONDO:0700092), chronic diarrheal disease (MONDO:0044751), microcephaly (MONDO:0001149), Coffin-Siris syndrome (MONDO:0015452), desmoplastic/nodular medulloblastoma (MONDO:0016711), autism spectrum disorder (MONDO:0005258), Coffin-Siris syndrome 1 (MONDO:0007617), dystonia, early-onset, and/or spastic paraplegia (MONDO:0859215), Castleman-Kojima disease (MONDO:0018702)
Orphanet (4): Coffin-Siris syndrome (Orphanet:1465), Desmoplastic/nodular medulloblastoma (Orphanet:251863), TAFRO syndrome (Orphanet:457077), NON RARE IN EUROPE: Autism (Orphanet:106)
HPO phenotypes
103 total (30 of 103 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000006 | Autosomal dominant inheritance |
| HP:0000028 | Cryptorchidism |
| HP:0000047 | Hypospadias |
| HP:0000085 | Horseshoe kidney |
| HP:0000119 | Abnormality of the genitourinary system |
| HP:0000154 | Wide mouth |
| HP:0000175 | Cleft palate |
| HP:0000179 | Thick lower lip vermilion |
| HP:0000219 | Thin upper lip vermilion |
| HP:0000252 | Microcephaly |
| HP:0000278 | Retrognathia |
| HP:0000280 | Coarse facial features |
| HP:0000286 | Epicanthus |
| HP:0000289 | Broad philtrum |
| HP:0000294 | Low anterior hairline |
| HP:0000322 | Short philtrum |
| HP:0000347 | Micrognathia |
| HP:0000348 | High forehead |
| HP:0000358 | Posteriorly rotated ears |
| HP:0000365 | Hearing impairment |
| HP:0000369 | Low-set ears |
| HP:0000405 | Conductive hearing impairment |
| HP:0000455 | Broad nasal tip |
| HP:0000463 | Anteverted nares |
| HP:0000486 | Strabismus |
| HP:0000494 | Downslanted palpebral fissures |
| HP:0000505 | Visual impairment |
| HP:0000508 | Ptosis |
| HP:0000545 | Myopia |
| HP:0000574 | Thick eyebrow |
GWAS associations
16 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000461_8 | Hippocampal atrophy | 8.000000e-06 |
| GCST005316_367 | Intelligence (MTAG) | 2.000000e-08 |
| GCST006291_122 | Spherical equivalent or myopia (age of diagnosis) | 7.000000e-15 |
| GCST006613_83 | Triglycerides | 6.000000e-11 |
| GCST007565_168 | Morning person | 5.000000e-17 |
| GCST007565_34 | Morning person | 8.000000e-17 |
| GCST007576_341 | Chronotype | 5.000000e-17 |
| GCST010002_216 | Refractive error | 2.000000e-29 |
| GCST010142_31 | Fish- and plant-related diet | 7.000000e-09 |
| GCST010244_377 | Triglyceride levels | 9.000000e-11 |
| GCST010320_91 | PR interval | 2.000000e-09 |
| GCST010321_72 | PR interval | 2.000000e-10 |
| GCST90002383_1 | Hematocrit | 1.000000e-14 |
| GCST90002384_305 | Hemoglobin | 4.000000e-12 |
| GCST90002390_56 | Mean corpuscular hemoglobin | 3.000000e-09 |
| GCST90002403_447 | Red blood cell count | 5.000000e-18 |
EFO canonical traits (11, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0005039 | hippocampal atrophy |
| EFO:0004337 | intelligence |
| EFO:0004847 | age at onset |
| EFO:0004530 | triglyceride measurement |
| EFO:0008328 | chronotype measurement |
| EFO:0008111 | diet measurement |
| EFO:0004462 | PR interval |
| EFO:0004348 | hematocrit |
| EFO:0004509 | hemoglobin measurement |
| EFO:0004527 | mean corpuscular hemoglobin |
| EFO:0004305 | erythrocyte count |
MeSH disease descriptors (3)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D008831 | Microcephaly | C05.660.207.620; C10.500.507.400.500; C16.131.621.207.620; C16.131.666.507.400.500 |
| D065886 | Neurodevelopmental Disorders | F03.625 |
| C536436 | Coffin-Siris syndrome (supp.) |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL5725016 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
2 potent at pChembl≥5 of 2 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 5.32 | Kd | 4847 | nM | CHEMBL5653589 |
| 5.30 | ED50 | 5023 | nM | CHEMBL5653589 |
PubChem BioAssay actives
1 with measured affinity, of 8 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.
| Compound | Assay | Type | Value | Unit |
|---|---|---|---|---|
| 4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide | 2147887: Binding affinity to human ARID2 incubated for 45 mins by Kinobead based pull down assay | kd | 4.8469 | uM |
CTD chemical–gene interactions
47 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | decreases methylation, increases expression, affects cotreatment, decreases expression, affects expression | 10 |
| trichostatin A | decreases expression, affects expression, affects cotreatment | 4 |
| bisphenol A | affects methylation, increases expression, increases methylation | 2 |
| (+)-JQ1 compound | affects expression, increases reaction, decreases expression | 2 |
| Benzo(a)pyrene | affects methylation, increases mutagenesis | 2 |
| Formaldehyde | decreases expression | 2 |
| 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | decreases expression | 2 |
| Aflatoxin B1 | decreases methylation, increases methylation | 2 |
| aristolochic acid I | decreases expression | 1 |
| FR900359 | affects phosphorylation | 1 |
| bisphenol F | affects cotreatment, decreases expression | 1 |
| TAK-243 | decreases sumoylation | 1 |
| methylmercuric chloride | decreases expression | 1 |
| lasiocarpine | decreases expression, increases metabolic processing | 1 |
| triphenyl phosphate | affects expression | 1 |
| riddelliine | decreases expression, increases metabolic processing | 1 |
| sodium arsenite | decreases expression | 1 |
| butyraldehyde | decreases expression | 1 |
| benzo(e)pyrene | increases methylation | 1 |
| aflatoxin B2 | affects methylation | 1 |
| coumarin | decreases phosphorylation | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| jinfukang | decreases expression | 1 |
| Irinotecan | decreases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Zoledronic Acid | decreases expression | 1 |
| Panobinostat | affects expression, increases reaction | 1 |
| Acetaminophen | increases expression | 1 |
ChEMBL screening assays
7 unique, capped per target: 7 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5650929 | Binding | Binding affinity to human ARID2 incubated for 45 mins by Kinobead based pull down assay | NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem |
Cellosaurus cell lines
486 cell lines: 464 induced pluripotent stem cell, 12 cancer cell line, 7 transformed cell line, 3 telomerase immortalized cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_1105 | CAL-12T | Cancer cell line | Male |
| CVCL_1134 | COLO 792 | Cancer cell line | Male |
| CVCL_3947 | SNU-354 | Cancer cell line | Male |
| CVCL_9S58 | HPSI0114i-kolf_2-C1 | Induced pluripotent stem cell | Male |
| CVCL_A4II | CAL-12T KRAS (G12C/+) | Cancer cell line | Male |
| CVCL_AE29 | HPSI0114i-kolf_2 | Induced pluripotent stem cell | Male |
| CVCL_B1JY | Abcam HeLa ARID2 KO | Cancer cell line | Female |
| CVCL_B5P3 | KOLF2.1J | Induced pluripotent stem cell | Male |
| CVCL_B7JK | SCLC-J1 | Cancer cell line | Male |
| CVCL_C7TY | KOLF2.1J PPM1H KO | Induced pluripotent stem cell | Male |
Clinical trials (associated diseases)
229 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT04586348 | PHASE4 | UNKNOWN | Prenatal Iodine Supplementation and Early Childhood Neurodevelopment |
| NCT04873115 | PHASE4 | UNKNOWN | Double-blind, Placebo-controlled, Randomized Clinical Trial Comparing the Efficacy and Safety of Sialanar Plus orAl rehabiLitation Against Placebo Plus Oral Rehabilitation for chIldren and Adolescents With seVere Sialorrhoea and Neurodisabilties, |
| NCT03876717 | PHASE4 | COMPLETED | Effect of the Sequestrant Colesevelam in Bile Acid Diarrhoea |
| NCT07436104 | PHASE4 | COMPLETED | Mortality Control Program for Economically Productive Age Group in Tribal Area of Melghat. |
| NCT02559102 | PHASE3 | COMPLETED | Dexmedetomidine Sedation Versus General Anaesthesia for Inguinal Hernia Surgery in Infants |
| NCT02757079 | PHASE3 | COMPLETED | Study of the Efficacy and Safety of NPC-15 for Sleep Disorders of Children With Neurodevelopmental Disorders |
| NCT06915480 | PHASE3 | RECRUITING | Reducing Missed Appointments |
| NCT07377032 | PHASE3 | RECRUITING | TAP-GRIN: Interventional Study on Patients With GRIN-related Neurodevelopmental Disorders |
| NCT02909959 | PHASE2 | COMPLETED | Sulforaphane for the Treatment of Young Men With Autism Spectrum Disorder |
| NCT06081348 | PHASE2 | RECRUITING | Sertraline vs. Placebo in the Treatment of Anxiety in Children and AdoLescents With NeurodevelopMental Disorders |
| NCT06352372 | PHASE2 | COMPLETED | Safety and Efficacy of tPBM for Epileptiform Activity in Autism |
| NCT01585025 | PHASE2 | COMPLETED | Obeticholic Acid in Bile Acid Diarrhoea |
| NCT03270085 | PHASE2 | COMPLETED | Trial to Understand Efficacy of Colesevelam in Diarrhea Predominant IBS Patients With Bile Acid Malabsorption |
| NCT05130047 | PHASE2 | COMPLETED | Aldafermin (NGM282) for Chronic Diarrhea Due to Bile Acid Malabsorption (BAM) |
| NCT05690321 | PHASE2 | COMPLETED | Opium Tincture Against Chronic Diarrhea - Patients |
| NCT00503191 | PHASE1 | COMPLETED | NeuroModulation Technique Treatment of Autism |
| NCT04475848 | PHASE1 | COMPLETED | A Study to Investigate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Food Effect of RO6953958 in Healthy Participants |
| NCT06300398 | PHASE1 | COMPLETED | IAMA-6 Oral Dose Study in Healthy Adults |
| NCT06960369 | PHASE1 | RECRUITING | Efficacy of Repeated Transcranial Magnetic Stimulation Combined With a Live Probiotic Tablet (Combined Bifidobacterium, Lactobacillus, Enterococcus and Bacillus Cereus Tablets, Live) in Diarrhea-Predominant Irritable Bowel Syndrome (IBS-D) |
| NCT01783041 | PHASE2/PHASE3 | COMPLETED | Effect of Early L-Carnitine Supplementation on Neurodevelopmental Outcomes in Very Preterm Infants |
| NCT05767385 | PHASE2/PHASE3 | RECRUITING | Fetal Cerebrovascular Autoregulation in Congenital Heart Disease and Association With Neonatal Neurobehavior |
| NCT05675098 | EARLY_PHASE1 | NOT_YET_RECRUITING | Central Nervous System Stimulants and Physical Function in Children With Cerebral Palsy |
| NCT00783783 | Not specified | COMPLETED | CYP2D6 Pharmacogenetics in Risperidone-Treated Children |
| NCT01778504 | Not specified | RECRUITING | Studying Childhood-onset Behavioral, Psychiatric, and Developmental Disorders |
| NCT01850784 | Not specified | UNKNOWN | High Energy Formula Feeding in Infants With Congenital Heart Disease |
| NCT01922791 | Not specified | COMPLETED | Nutrition and Pregnancy Intervention Study |
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Related Atlas pages
- Associated diseases: Coffin-Siris syndrome 1, Coffin-Siris syndrome 6
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): Castleman-Kojima disease, chronic diarrheal disease, Coffin-Siris syndrome, Coffin-Siris syndrome 1, Coffin-Siris syndrome 6, desmoplastic/nodular medulloblastoma, dystonia, early-onset, and/or spastic paraplegia, refractive error